July 2024 in “Journal of Investigative Dermatology” A KLK5 inhibitor effectively improved skin symptoms in a mouse model of Netherton Syndrome.
148 citations
,
May 2012 in “The American Journal of Human Genetics” Cantú syndrome is caused by mutations in the ABCC9 gene.
5 citations
,
October 2022 in “Biology” CAP1 helps Arabidopsis plants grow better under ammonium stress.
33 citations
,
June 2007 in “Gene Expression Patterns” CTIP2 may help in skin development and maintenance.
Ca²⁺-mediated protein citrullination controls cell growth in the CNS and may help treat brain tumors.
22 citations
,
July 1998 in “Journal of Investigative Dermatology” The 4C32 gene may help in mouse skin development and differentiation.
87 citations
,
November 2002 in “Journal of Investigative Dermatology” 28 citations
,
December 1997 in “Journal of Biological Chemistry” A genetic mutation in the hHa1 gene creates a smaller, but still functional, hair protein without causing hair problems.
3 citations
,
January 2023 in “American journal of physiology. Cell physiology” Inward rectifier potassium channels are important in many body functions and diseases, and could be potential drug targets.
15 citations
,
June 2012 in “British Journal of Dermatology” A new mutation in the KRT86 gene causes a hair disorder with variable expression.
5 citations
,
August 2005 in “Archives of Dermatological Research” HSPC016 gene is important for hair growth.
4 citations
,
January 2001 in “Archives of Biochemistry and Biophysics” Activated ras can protect kidney cells from a certain substance that causes cell death.
5 citations
,
July 2014 in “Molecular Biology Reports” October 2014 in “Cancer research” Blocking mTORC1 reduces skin tumor growth in mice.
11 citations
,
April 2012 in “Journal of Investigative Dermatology” A specific mutation in PA-PLA1α causes abnormal hair growth.
124 citations
,
July 2017 in “eLife” Type XVII collagen helps control skin cell growth and could be a target for anti-aging treatments.
4 citations
,
February 2016 in “Clinical Pharmacology & Therapeutics” Hair follicle samples effectively show how well the drug MK-0752 targets and engages with the Notch pathway.
April 2017 in “Journal of Investigative Dermatology” The protein CTCF is essential for skin development, maintaining hair follicles, and preventing inflammation.
1 citations
,
April 1998 in “PubMed” Nexin 1 helps control hair growth in young rats.
27 citations
,
July 2017 in “Scientific Reports” N-WASP is essential for healthy skin and preventing inflammation.
32 citations
,
November 1998 in “Journal of Biological Chemistry” Mouse and human keratin 16 can both form filaments, with differences likely due to the tail domain, not the helical domain.
August 2012 in “Nature Cell Biology” The tumor suppressor BRCA2 helps in cell division by bringing key proteins to the area where cells split.
28 citations
,
January 2015 in “Journal of Cell Science” PINCH-1 is crucial for skin cell adhesion and movement, working with EPLIN and ILK.
A KRT32 gene variant causes loose anagen hair syndrome.
62 citations
,
October 2018 in “Journal of pathology” Keratin 17 is linked to various diseases, including cancer and skin conditions, and may be a target for diagnosis and treatment.
A specific gene change in APCDD1 increases the risk of hair loss.
January 2016 in “DOAJ (DOAJ: Directory of Open Access Journals)” Collagen XVII is important for cell functions and its absence can worsen cancer outcomes.
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
22 citations
,
February 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes severe skin and nail issues and hair loss.
33 citations
,
March 1994 in “PubMed” High ODC and low K1 and K10 may indicate early skin tumors in mice.